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Article

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

25 Jun 2018

Abstract excerpt

Mutations in TANK binding kinase 1 (TBK1) have been linked to amyotrophic lateral sclerosis. Some TBK1 variants are nonsense and are predicted to cause disease through haploinsufficiency; however, many other mutations are missense with unknown functional effects. We exome sequenced 699 familial amyotrophic lateral sclerosis patients and identified 16 TBK1 novel or extremely rare protein-changing variants. We...

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PMID: 30033073
DOI: 10.1016/j.neurobiolaging.2018.06.015

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